Mutagenetix > Incidental Mutations

Incidental Mutation 'R1891:Olfr290'

211492

Institutional Source

Beutler Lab

Gene Symbol

Olfr290

Ensembl Gene

ENSMUSG00000116179

Gene Name

Synonyms

GA_x6K02T2NHDJ-11170115-11169168, MOR254-1

MMRRC Submission

039911-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84915781-84916728 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84916253 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 158 (V158D)

Ref Sequence

ENSEMBL: ENSMUSP00000149523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073468
AA Change: V158D

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: V158D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	309	8.4e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.2e-10	PFAM
Pfam:7tm_1	41	291	1.3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173463

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214501
AA Change: V158D

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216184
AA Change: V158D

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216367
AA Change: V158D

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,926,033	M135K	possibly damaging	Het
Abca7	T	C	10: 80,005,040	I921T	possibly damaging	Het
Abca8a	T	C	11: 110,091,607	K3R	probably benign	Het
Adgrl3	A	T	5: 81,512,044	D152V	probably damaging	Het
Akap6	A	T	12: 53,142,175	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,659,575	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,643,508		probably benign	Het
Arid4b	T	A	13: 14,136,236	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,776,519	D219Y	probably damaging	Het
Ccdc113	A	G	8: 95,540,916	K170E	probably damaging	Het
Ccdc151	G	T	9: 21,995,381		probably null	Het
Ceacam9	A	G	7: 16,723,955	E136G	probably damaging	Het
Cfap43	A	G	19: 47,813,941	L333P	probably damaging	Het
Chl1	A	G	6: 103,714,583	D1062G	possibly damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,669,645		probably benign	Het
Clpp	T	A	17: 56,991,307	V91E	probably damaging	Het
Cndp1	A	T	18: 84,619,633	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446	N169S	probably benign	Het
Cog6	A	C	3: 52,983,180	I613R	probably benign	Het
Creb3l1	A	G	2: 91,987,040	L376P	probably damaging	Het
Cry2	A	T	2: 92,413,640	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,859,265	M240V	possibly damaging	Het
Defa28	G	A	8: 21,583,785	C68Y	probably damaging	Het
Dgcr14	C	T	16: 17,907,780	W183*	probably null	Het
Ecd	A	G	14: 20,338,159	I187T	probably damaging	Het
Erg28	A	G	12: 85,816,188	S117P	probably benign	Het
Ergic2	A	T	6: 148,183,079	C319S	probably damaging	Het
Evc2	A	C	5: 37,392,079	D773A	probably damaging	Het
Fam151b	T	A	13: 92,450,170	T252S	probably benign	Het
Fbxo28	A	T	1: 182,317,824	M233K	probably benign	Het
Fbxw26	T	G	9: 109,722,164	D355A	probably benign	Het
Gm13101	A	T	4: 143,966,665	V81E	probably damaging	Het
Gm4884	G	C	7: 41,043,115	E169D	possibly damaging	Het
Hk2	C	T	6: 82,749,283	R94Q	probably benign	Het
Hps4	G	A	5: 112,369,556		probably null	Het
Hspg2	T	A	4: 137,565,490	D4126E	probably damaging	Het
Kif13a	T	C	13: 46,929,219	E48G	possibly damaging	Het
Krt31	T	A	11: 100,047,808	N320Y	probably damaging	Het
Lca5	T	C	9: 83,395,608	Y561C	probably damaging	Het
Lrrk1	G	A	7: 66,279,300	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,074,293	Y25*	probably null	Het
Map3k13	T	G	16: 21,911,086	M489R	probably damaging	Het
Mcm6	C	T	1: 128,335,810	R658H	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Mitf	A	G	6: 97,941,276	T94A	probably benign	Het
Mpo	T	A	11: 87,801,280	L513*	probably null	Het
Mst1r	T	A	9: 107,913,462	N722K	probably damaging	Het
Mthfd1l	T	A	10: 4,032,284	L497*	probably null	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Naip2	C	T	13: 100,154,887	R1181K	probably benign	Het
Nbas	T	C	12: 13,390,972	M1101T	possibly damaging	Het
Olfr10	T	C	11: 49,317,857	F104L	probably benign	Het
Olfr1313	A	T	2: 112,072,394	L63Q	probably damaging	Het
Olfr19	T	A	16: 16,673,577	I135F	probably damaging	Het
Olfr685	A	T	7: 105,180,547	Y270*	probably null	Het
Olfr820	T	C	10: 130,017,570	S70P	probably damaging	Het
Olfr835	T	C	9: 19,035,978	L285S	probably damaging	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,117,145	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859	V129E	probably damaging	Het
Pax7	G	A	4: 139,784,626	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,720,875	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,519,304	V275A	probably damaging	Het
Pkp3	C	T	7: 141,084,056		probably null	Het
Plekhb1	A	G	7: 100,655,392	L35P	probably damaging	Het
Pole	T	A	5: 110,332,542	F1993Y	probably damaging	Het
Prdx1	T	C	4: 116,699,254	*200R	probably null	Het
Prkdc	C	A	16: 15,725,436	T1777N	probably benign	Het
Ptpn14	G	A	1: 189,798,653	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,393,800	E63G	possibly damaging	Het
Qser1	A	C	2: 104,790,099	S123A	probably benign	Het
Rbm11	A	G	16: 75,600,787	N202D	possibly damaging	Het
Robo3	T	A	9: 37,428,055	Y212F	probably damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Serpinb1c	T	A	13: 32,884,252	D179V	probably benign	Het
Skint6	T	C	4: 112,846,696	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,393,460	S46P	probably damaging	Het
St8sia4	T	C	1: 95,591,708	T352A	possibly damaging	Het
Stab1	C	A	14: 31,141,330	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,532,416	C730R	probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tex33	T	A	15: 78,378,752	D234V	probably damaging	Het
Tle4	A	T	19: 14,544,786		probably null	Het
Tmem200a	T	A	10: 25,994,072	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,840,859		probably null	Het
Ttn	T	A	2: 76,875,958		probably benign	Het
Ubac1	A	G	2: 26,014,962	V88A	probably benign	Het
Urgcp	T	C	11: 5,716,910	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,475,255	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,386,069	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,455	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,052,724	E1865*	probably null	Het
Zc3h3	A	C	15: 75,756,931	M838R	possibly damaging	Het
Zfp959	T	A	17: 55,897,604	C211S	probably damaging	Het

Other mutations in Olfr290

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Olfr290	APN	7	84916370	missense	probably damaging	0.99
IGL01322:Olfr290	APN	7	84916382	missense	probably damaging	0.99
IGL01834:Olfr290	APN	7	84916652	missense	probably damaging	1.00
IGL02556:Olfr290	APN	7	84916359	nonsense	probably null
IGL03246:Olfr290	APN	7	84916711	missense	probably benign	0.03
IGL03255:Olfr290	APN	7	84916517	missense	possibly damaging	0.95
R0322:Olfr290	UTSW	7	84916313	missense	probably damaging	1.00
R1253:Olfr290	UTSW	7	84916709	missense	probably benign
R1652:Olfr290	UTSW	7	84916520	missense	probably damaging	1.00
R1673:Olfr290	UTSW	7	84916117	missense	probably damaging	0.97
R1895:Olfr290	UTSW	7	84916279	missense	probably benign	0.01
R1946:Olfr290	UTSW	7	84916279	missense	probably benign	0.01
R2128:Olfr290	UTSW	7	84916493	missense	probably damaging	1.00
R4435:Olfr290	UTSW	7	84916021	missense	probably benign	0.45
R4822:Olfr290	UTSW	7	84916426	missense	possibly damaging	0.81
R4834:Olfr290	UTSW	7	84916283	missense	probably damaging	1.00
R5354:Olfr290	UTSW	7	84916149	nonsense	probably null
R5644:Olfr290	UTSW	7	84916119	missense	probably benign	0.15
R5650:Olfr290	UTSW	7	84916418	missense	possibly damaging	0.50
R5708:Olfr290	UTSW	7	84916183	missense	possibly damaging	0.56
R6585:Olfr290	UTSW	7	84916462	missense	probably damaging	0.99
R7774:Olfr290	UTSW	7	84916531	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAGCTCTATTTCCTGGTGGC -3'
(R):5'- CTTCAGCTGACCGGATCTTTAGG -3'

Sequencing Primer
(F):5'- CTCTAGCTGGGACTGAAGTCTTC -3'
(R):5'- ATCTTTAGGATGGTGGAGACAATG -3'

Posted On

2014-06-30